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KANK1 (KN motif and ankyrin repeat domains 1)

Identity

Alias_namesANKRD15
ankyrin repeat domain 15
Alias_symbol (synonym)KIAA0172
KANK
Other aliasCPSQ2
HGNC (Hugo) KANK1
LocusID (NCBI) 23189
Atlas_Id 645
Location 9p24.3  [Link to chromosome band 9p24]
Location_base_pair Starts at 470294 and ends at 746106 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ESCO1 (18q11.2) / KANK1 (9p24.3)IGFN1 (1q32.1) / KANK1 (9p24.3)KANK1 (9p24.3) / DOCK8 (9p24.3)
KANK1 (9p24.3) / MCM3AP-AS1 (21q22.3)KANK1 (9p24.3) / PDGFRB (5q32)KANK1 (9p24.3) / TPD52L3 (9p24.1)
KANK1 (9p24.3) / UHRF2 (9p24.1)PAX5 (9p13.2) / KANK1 (9p24.3)PIK3R1 (5q13.1) / KANK1 (9p24.3)
ESCO1 18q11.2 / KANK1 9p24.3IGFN1 1q32.1 / KANK1 9p24.3KANK1 9p24.3 / DOCK8 9p24.3
KANK1 9p24.3 / TPD52L3 9p24.1KANK1 9p24.3 / UHRF2 9p24.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;9)(q32;p24) KANK1/PDGFRB


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)KANK1   19309
Cards
Entrez_Gene (NCBI)KANK1  23189  KN motif and ankyrin repeat domains 1
AliasesANKRD15; CPSQ2; KANK
GeneCards (Weizmann)KANK1
Ensembl hg19 (Hinxton)ENSG00000107104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107104 [Gene_View]  chr9:470294-746106 [Contig_View]  KANK1 [Vega]
ICGC DataPortalENSG00000107104
TCGA cBioPortalKANK1
AceView (NCBI)KANK1
Genatlas (Paris)KANK1
WikiGenes23189
SOURCE (Princeton)KANK1
Genetics Home Reference (NIH)KANK1
Genomic and cartography
GoldenPath hg38 (UCSC)KANK1  -     chr9:470294-746106 +  9p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KANK1  -     9p24.3   [Description]    (hg19-Feb_2009)
EnsemblKANK1 - 9p24.3 [CytoView hg19]  KANK1 - 9p24.3 [CytoView hg38]
Mapping of homologs : NCBIKANK1 [Mapview hg19]  KANK1 [Mapview hg38]
OMIM607704   612900   
Gene and transcription
Genbank (Entrez)AB205106 AB205107 AB205108 AB205109 AB205110
RefSeq transcript (Entrez)NM_001256876 NM_001256877 NM_015158 NM_153186
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KANK1
Cluster EST : UnigeneHs.306764 [ NCBI ]
CGAP (NCI)Hs.306764
Alternative Splicing GalleryENSG00000107104
Gene ExpressionKANK1 [ NCBI-GEO ]   KANK1 [ EBI - ARRAY_EXPRESS ]   KANK1 [ SEEK ]   KANK1 [ MEM ]
Gene Expression Viewer (FireBrowse)KANK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23189
GTEX Portal (Tissue expression)KANK1
Human Protein AtlasENSG00000107104-KANK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14678   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14678  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14678
Splice isoforms : SwissVarQ14678
PhosPhoSitePlusQ14678
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    KN_motif   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    KN_motif (PF12075)   
Domain families : Pfam (NCBI)pfam12796    pfam12075   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)KANK1
DMDM Disease mutations23189
Blocks (Seattle)KANK1
SuperfamilyQ14678
Human Protein Atlas [tissue]ENSG00000107104-KANK1 [tissue]
Peptide AtlasQ14678
HPRD09651
IPIIPI00339320   IPI00551051   IPI00644534   IPI00479846   IPI00646764   
Protein Interaction databases
DIP (DOE-UCLA)Q14678
IntAct (EBI)Q14678
FunCoupENSG00000107104
BioGRIDKANK1
STRING (EMBL)KANK1
ZODIACKANK1
Ontologies - Pathways
QuickGOQ14678
Ontology : AmiGOprotein binding  nucleus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-templated  beta-catenin binding  negative regulation of neuron projection development  positive regulation of Wnt signaling pathway  negative regulation of cell migration  negative regulation of actin filament polymerization  ruffle membrane  negative regulation of Rho protein signal transduction  positive regulation of catenin import into nucleus  negative regulation of insulin receptor signaling pathway  positive regulation of wound healing  negative regulation of substrate adhesion-dependent cell spreading  negative regulation of ruffle assembly  regulation of establishment of cell polarity  negative regulation of lamellipodium morphogenesis  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-templated  beta-catenin binding  negative regulation of neuron projection development  positive regulation of Wnt signaling pathway  negative regulation of cell migration  negative regulation of actin filament polymerization  ruffle membrane  negative regulation of Rho protein signal transduction  positive regulation of catenin import into nucleus  negative regulation of insulin receptor signaling pathway  positive regulation of wound healing  negative regulation of substrate adhesion-dependent cell spreading  negative regulation of ruffle assembly  regulation of establishment of cell polarity  negative regulation of lamellipodium morphogenesis  
NDEx NetworkKANK1
Atlas of Cancer Signalling NetworkKANK1
Wikipedia pathwaysKANK1
Orthology - Evolution
OrthoDB23189
GeneTree (enSembl)ENSG00000107104
Phylogenetic Trees/Animal Genes : TreeFamKANK1
HOVERGENQ14678
HOGENOMQ14678
Homologs : HomoloGeneKANK1
Homology/Alignments : Family Browser (UCSC)KANK1
Gene fusions - Rearrangements
Fusion : MitelmanESCO1/KANK1 [18q11.2/9p24.3]  [t(9;18)(p24;q11)]  
Fusion : MitelmanIGFN1/KANK1 [1q32.1/9p24.3]  [t(1;9)(q32;p24)]  
Fusion : MitelmanKANK1/DOCK8 [9p24.3/9p24.3]  [t(9;9)(p24;p24)]  
Fusion : MitelmanKANK1/PDGFRB [9p24.3/5q32]  [t(5;9)(q32;p24)]  
Fusion : MitelmanKANK1/TPD52L3 [9p24.3/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanKANK1/UHRF2 [9p24.3/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanPIK3R1/KANK1 [5q13.1/9p24.3]  [t(5;9)(q13;p24)]  
Fusion: TCGA_MDACCESCO1 18q11.2 KANK1 9p24.3 BRCA
Fusion: TCGA_MDACCIGFN1 1q32.1 KANK1 9p24.3 LGG
Fusion: TCGA_MDACCKANK1 9p24.3 DOCK8 9p24.3 BRCA LUAD
Fusion: TCGA_MDACCKANK1 9p24.3 TPD52L3 9p24.1 KIRC
Fusion: TCGA_MDACCKANK1 9p24.3 UHRF2 9p24.1 KIRC
Tumor Fusion PortalKANK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKANK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KANK1
dbVarKANK1
ClinVarKANK1
1000_GenomesKANK1 
Exome Variant ServerKANK1
ExAC (Exome Aggregation Consortium)ENSG00000107104
GNOMAD BrowserENSG00000107104
Genetic variants : HAPMAP23189
Genomic Variants (DGV)KANK1 [DGVbeta]
DECIPHERKANK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKANK1 
Mutations
ICGC Data PortalKANK1 
TCGA Data PortalKANK1 
Broad Tumor PortalKANK1
OASIS PortalKANK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKANK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKANK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KANK1
DgiDB (Drug Gene Interaction Database)KANK1
DoCM (Curated mutations)KANK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KANK1 (select a term)
intoGenKANK1
Cancer3DKANK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607704    612900   
Orphanet18688   
DisGeNETKANK1
MedgenKANK1
Genetic Testing Registry KANK1
NextProtQ14678 [Medical]
TSGene23189
GENETestsKANK1
Target ValidationKANK1
Huge Navigator KANK1 [HugePedia]
snp3D : Map Gene to Disease23189
BioCentury BCIQKANK1
ClinGenKANK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23189
Chemical/Pharm GKB GenePA162392554
Clinical trialKANK1
Miscellaneous
canSAR (ICR)KANK1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKANK1
EVEXKANK1
GoPubMedKANK1
iHOPKANK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:18:26 CET 2017

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